ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.853-2A>G (rs863223424)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine,Kyoto University Graduate School of Medicine RCV000242870 SCV000320708 pathogenic Primary pulmonary hypertension 2016-07-11 no assertion criteria provided clinical testing
GeneDx RCV000199603 SCV000249647 pathogenic not provided 2015-06-04 criteria provided, single submitter clinical testing c.853-2 A>G:IVS6-2 A>G in intron 6 of the BMPR2 gene (NM_001204.6). The c.853-2 A>G mutation has been reported in at least one individual with idiopathic PAH (Machado R et al., 2006). This mutation destroys the canonical splice acceptor site in intron 6 and is predicted to cause abnormal gene splicing. The mutation is predicted to lead to an abnormal message that is subject to nonsense-mediated mRNA decay (Machado R et al., 2006). Other splice site mutations in the BMPR2 gene have been reported in association with PAH. Furthermore, the c.853-2 A>G mutation was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. In summary, c.853-2 A>G in the BMPR2 gene is interpreted as a disease-causing mutation. This variant was found in PAH-PANCARD
Medical & Molecular Genetics Group,University of Lincoln RCV000242870 SCV000576118 pathogenic Primary pulmonary hypertension no assertion criteria provided literature only

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